rs886039860
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Orofaciodigital Syndrome I
0.800
GeneticVariation
UNIPROT
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
23033313
2013
rs886039860
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Orofaciodigital Syndrome I
0.800
GeneticVariation
UNIPROT
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
16397067
2006
rs886039860
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Orofaciodigital Syndrome I
0.800
GeneticVariation
UNIPROT
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.
12595504
2003
rs886039860
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Orofaciodigital Syndrome I
0.800
GeneticVariation
UNIPROT
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.
11950863
2002
rs886039860
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Orofaciodigital Syndrome I
0.800
GeneticVariation
UNIPROT
Identification of the gene for oral-facial-digital type I syndrome.
11179005
2001
rs886039860
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Orofaciodigital Syndrome I
G
0.800
CausalMutation
CLINVAR
rs312262818
TRAPPC2;OFD1
Familial aplasia of the vermis
G
0.700
CausalMutation
CLINVAR
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
28289185
2017
rs1555907034
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.
27081566
2016
rs1555907034
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Movement Disorders
A
0.700
CausalMutation
CLINVAR
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.
27081566
2016
rs1569102786
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Familial aplasia of the vermis
T
0.700
GeneticVariation
CLINVAR
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.
27081566
2016
rs312262894
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
JOUBERT SYNDROME 10 (disorder)
T
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs797044945
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Familial aplasia of the vermis
T
0.700
CausalMutation
CLINVAR
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
25356970
2015
rs863225211
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
JOUBERT SYNDROME 10 (disorder)
T
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs863225212
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
JOUBERT SYNDROME 10 (disorder)
T
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs863225213
TRAPPC2;OFD1
JOUBERT SYNDROME 10 (disorder)
G
0.700
CausalMutation
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
rs1555907034
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Simpson-Golabi-Behmel syndrome types I and II.
25238977
2014
rs1555907034
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Movement Disorders
A
0.700
CausalMutation
CLINVAR
Simpson-Golabi-Behmel syndrome types I and II.
25238977
2014
rs1555907034
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
24884629
2014
rs1555907034
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Movement Disorders
A
0.700
CausalMutation
CLINVAR
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
24884629
2014
rs1569128307
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Familial aplasia of the vermis
C
0.700
CausalMutation
CLINVAR
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
24884629
2014
rs312262830
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
JOUBERT SYNDROME 10 (disorder)
T
0.700
CausalMutation
CLINVAR
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
24884629
2014
rs312262830
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Abnormality of brain morphology
T
0.700
CausalMutation
CLINVAR
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
24884629
2014
rs1555907034
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Movement Disorders
A
0.700
CausalMutation
CLINVAR
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
23033313
2013
rs1555907034
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
23033313
2013
rs797044945
×
Entrez Id:
8481
Gene Symbol:
OFD1
OFD1
Familial aplasia of the vermis
T
0.700
CausalMutation
CLINVAR
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
23036093
2013